Linked Data
dbSNP Id:
rs1256733093
MyVariant Identifiers:
chr12:g.102179804_102179805insCAAAAA (hg19)
chr12:g.101786026_101786027insCAAAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101786030_101786035dup , CM000674.2:g.101786030_101786035dup | GRCh38 |
| NC_000012.11:g.102179808_102179813dup , CM000674.1:g.102179808_102179813dup | GRCh37 |
| NC_000012.10:g.100703939_100703944dup | NCBI36 |
| NG_021243.1:g.49836_49841dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.551_556dup MANE Select | ENSP00000299314.7:p.Phe185_Asp186insValPhe | |
| ENST00000299314.11:c.551_556dup | ENSP00000299314.7:p.Phe185_Asp186insValPhe | |
| ENST00000549940.5:c.551_556dup | ENSP00000449150.1:p.Phe185_Asp186insValPhe | |
| ENST00000550352.1:n.345_350dup | ||
| ENST00000552681.1:c.185_190dup | ENSP00000449217.1:p.Phe63_Asp64insValPhe | |
| NM_024312.4:c.551_556dup | NP_077288.2:p.Phe185_Asp186insValPhe | |
| XM_006719593.2:c.551_556dup | XP_006719656.1:p.Phe185_Asp186insValPhe | |
| XM_011538731.1:c.470_475dup | XP_011537033.1:p.Phe158_Asp159insValPhe | |
| XM_006719593.3:c.551_556dup | XP_006719656.1:p.Phe185_Asp186insValPhe | |
| XM_011538731.2:c.470_475dup | XP_011537033.1:p.Phe158_Asp159insValPhe | |
| XM_017019961.1:c.335_340dup | XP_016875450.1:p.Phe113_Asp114insValPhe | |
| XM_017019962.2:c.-800_-795dup | XP_016875451.1:n.-800_-795dup | |
| NM_024312.5:c.551_556dup MANE Select | NP_077288.2:p.Phe185_Asp186insValPhe |